Referenced in: none

Automatically associated channels: Slo2

Title: De novo 15q13.3 microdeletion with cryptogenic West syndrome.

Authors: Elodie Lacaze, Nicolas Gruchy, Marie-José Penniello-Valette, Ghislaine Plessis, Nicolas Richard, Mathieu Decamp, Hervé Mittre, Nathalie Leporrier, Joris Andrieux, Marie-Laure Kottler, Marion Gerard

Journal, date & volume: Am. J. Med. Genet. A, 2013 Oct , 161, 2582-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23929658

Abstract
West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 microdeletions are less frequent, usually associated with intellectual disability and facial dysmorphism. So-called "idiopathic" West syndrome is of better prognostic, without prior intellectual deficiency and usually responsive to anti-epileptic treatment. We report on a boy falling within the scope of idiopathic West syndrome, with no dysmorphic features and normal development before the beginning of West syndrome, with a good resolution after treatment, bearing a de novo 15q13.3 microdeletion. Six genes are located in the deleted region, including CHRNA7, which encodes a subunit of a nicotinic acetylcholine receptor, and is frequently associated with epilepsy. Exploration of the 15q13.3 region should be proposed in idiopathic West syndrome.